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Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
Sculco M, La Vecchia M, Aspesi A, Pinton G, Clavenna MG, Casalone E, Allione A, Grosso F, Libener R, Muzio A, Rena O, Baietto G, Parini S, Boldorini R, Giachino D, Papotti M, Scagliotti GV, Migliore E, Mirabelli D, Moro L, Magnani C, Ferrante D, Matullo G, Dianzani I. Sculco M, et al. Among authors: giachino d. Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13. Eur J Cancer. 2022. PMID: 35032816 Free article.
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Sculco M, La Vecchia M, Aspesi A, Clavenna MG, Salvo M, Borgonovi G, Pittaro A, Witel G, Napoli F, Listì A, Grosso F, Libener R, Maconi A, Rena O, Boldorini R, Giachino D, Bironzo P, Maffè A, Alì G, Elefanti L, Menin C, Righi L, Tampieri C, Scagliotti GV, Dianzani C, Ferrante D, Migliore E, Magnani C, Mirabelli D, Matullo G, Dianzani I. Sculco M, et al. Among authors: giachino d. Diagnostics (Basel). 2022 Jul 13;12(7):1710. doi: 10.3390/diagnostics12071710. Diagnostics (Basel). 2022. PMID: 35885614 Free PMC article.
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. Longo I, et al. Among authors: giachino d. Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x. Kidney Int. 2002. PMID: 12028435 Free article.
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
Giachino D, van Duist MM, Regazzoni S, Gregori D, Bardessono M, Salacone P, Scaglione N, Sostegni R, Sapone N, Bresso F, Sambataro A, Gaia E, Pera A, Astegiano M, De Marchi M. Giachino D, et al. Eur J Hum Genet. 2004 Mar;12(3):206-12. doi: 10.1038/sj.ejhg.5201130. Eur J Hum Genet. 2004. PMID: 14747834
A new CARD15 mutation in Blau syndrome.
van Duist MM, Albrecht M, Podswiadek M, Giachino D, Lengauer T, Punzi L, De Marchi M. van Duist MM, et al. Among authors: giachino d. Eur J Hum Genet. 2005 Jun;13(6):742-7. doi: 10.1038/sj.ejhg.5201404. Eur J Hum Genet. 2005. PMID: 15812565
76 results